Population-Scale Long-Read Sequencing to Catalog Structural Variants in Parkinson’s Disease
Objective: We aimed to generate a population scale long-read sequencing dataset to begin to catalog structural variants in Parkinson’s disease (PD) to identify potential new variants…Isolation of L1CAM-extracellular vesicles reveals signs of insulin resistance in Parkinson’s disease
Objective: The aim of this study was to test the utility of isolating L1 Cell Adhesion Molecule (L1CAM)-derived extracellular vesicles (EVs) in quantification of glucose…Early functional disruption in body-first compared to brain-first Parkinson’s disease
Objective: To analyze differences in functional connectivity (FC) between Parkinson’s disease (PD) patients with and without premotor REM behavior disorder (pRBD), by means of high-density…Presenting the Dystonia Pain Classification System (Dystonia-PCS)
Objective: To develop a chronic pain (CP) classification and scoring system for dystonia. Background: CP is prevalent in dystonia and significantly impacts patient’s quality of…Fluorescence-lifetime ophthalmoscopy findings in Parkinson’s disease patients with visual disturbances
Objective: We identified fluorescence-lifetime ophthalmoscopy changes in Parkinson’s disease (PD) patients experiencing visual disturbances. Background: Fluorescence-lifetime ophthalmoscopy (FLIO), a novel in vivo imaging method generating…Validation of the EQ-5D-3L in Spinocerebellar Ataxia (SCA)
Objective: Our study aims to assess the acceptability, validity and responsiveness of the EQ-5D-3L in SCA types 1, 2, 3 and 6. Background: Although health-related…Clinico-genetic analysis of patients with Parkinson’s disease and GBA mutations from a tertiary care teaching centre in India
Objective: To describe the clinico-genetic association of PD patients with heterozygous GBA mutations (PDwG). Background: Parkinson’s disease (PD) is currently understood to be the outcome…Narcolepsy type 1, supranuclear vertical gaze palsy, and agrypnia excitata in a patient with anti-Ma associated encephalitis.
Objective: To describe a case of a patient with narcolepsy type 1, supranuclear vertical gaze palsy, and agrypnia excitata, who presented with anti-Ma encephalitis. Background:…Cognitive flexibility associates with atrophy and disrupted connectivity of the cognitive cerebellum in degenerative cerebellar ataxia
Objective: This study was to investigate the features of cognitive flexibility in patients with degenerative cerebellar ataxia, and to identify the pathophysiological correlates of cognitive…How do people with Parkinson’s disease experience self-optimization of treatment using digitally supported symptom monitoring?
Objective: The aim of this study was to investigate how people with Parkinson´s disease experience an intervention of optimizing their own medical treatment through digitally…
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